Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

Chiara Zanetta, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Irene Faravelli, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalArticlepeer-review


Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.

Original languageEnglish
Pages (from-to)187-196
Number of pages10
JournalJournal of Cellular and Molecular Medicine
Issue number2
Publication statusPublished - Feb 2014


  • Antisense oligonucleotides
  • Gene therapy
  • Induced pluripotent stem cells
  • Molecular therapy
  • Morpholino
  • Spinal muscular atrophy
  • Stem-cell therapy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Medicine


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